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Genomic technologies in pregnancy: novel challenges for health practice and services
Researchers: Hagit Hochner1, Shiri Shkedi-Rafid2, Vardiella Meiner2, Yechiel Friedlander1, Yehuda Neumark1, Ayala Frumkin2
- Hebrew University
- Hadassah
Background: Prenatal genomic tests increase diagnostic rates, but can also identify variants with uncertain implications. Information about views, motivations, and choices of providers and users of these tests is limited.
Objectives: We built a comprehensive picture of perspectives of women and healthcare professionals (HCPs) related to chromosomal-microarray-analysis (CMA) in pregnancy. Findings were used to develop a web-based tool for women/parents to improve preparation for genomic tests.
Method: 1. In-depth interviews were conducted with:
1) HCPs involved in prenatal genomic testing;
2) women who underwent prenatal CMA testing, for a range of indications, and received uncertain results. Data were analyzed using Grounded Theory approach.
2. Questionnaires were administered to post-partum women prior to discharge in three major hospitals in Israel.
3. A database of CMA results was assembled and data from the Hadassah genetic unit and the obstetric departments’ electronic records were linked.
1) HCPs involved in prenatal genomic testing;
2) women who underwent prenatal CMA testing, for a range of indications, and received uncertain results. Data were analyzed using Grounded Theory approach.
2. Questionnaires were administered to post-partum women prior to discharge in three major hospitals in Israel.
3. A database of CMA results was assembled and data from the Hadassah genetic unit and the obstetric departments’ electronic records were linked.
Findings: 1. Four main aspects emerged from preliminary analysis of interviews:
1) Limited understanding of the test’s potential findings;
2) Long-term concern for child’s health;
3) Varied impact of uncertain results on subsequent reproductive choices;
4) Factors influencing test result disclosure.
2. Among postpartum women, religious observance, education level and concern for newborn’s health were significantly associated with the approach towards seeking genetic knowledge.
3. In a total of over 5,000 CMA prenatal samples, over 60,000 copy number variants were identified and aggregated into 260 recurrent regions.
4. We have developed a web-based preparation tool for women/parents undergoing genomic tests in pregnancy.
1) Limited understanding of the test’s potential findings;
2) Long-term concern for child’s health;
3) Varied impact of uncertain results on subsequent reproductive choices;
4) Factors influencing test result disclosure.
2. Among postpartum women, religious observance, education level and concern for newborn’s health were significantly associated with the approach towards seeking genetic knowledge.
3. In a total of over 5,000 CMA prenatal samples, over 60,000 copy number variants were identified and aggregated into 260 recurrent regions.
4. We have developed a web-based preparation tool for women/parents undergoing genomic tests in pregnancy.
Conclusions: Although potential users generally understand the complexity of genomic findings, actual users report poor pre-test understanding. HCPs share the view that current practice does not provide sufficient preparation for women/couples.
Recommendations: Given the complexity of the genomic information we recommend augmenting standard practice with pre-test explanatory tools, provided sufficient time prior to testing. Additionally, a uniform disclosure policy amongst all laboratories and genetics centers in Israel should be implemented, grounded in guidelines issued by the Israeli Association of Genetics.
Research number: A/82/2015
Research end date: 03/2019